Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genome study confirms immune system link to disfiguring leg swelling

29.03.2012
Genetic variants in a region of the genome linked to our immune response have been linked to increased risk of podoconiosis, a disfiguring and disabling leg swelling caused by an abnormal reaction to the minerals found in soil. An estimated 4 million people worldwide suffer from the condition.

In a study published today in the New England Journal of Medicine, researchers funded by the Wellcome Trust and the Association of Physicians of Great Britain and Ireland compared the genomes of 194 people affected by the disease from southern Ethiopia against 203 people who were unaffected. They identified three genetic variants that increased the risk of developing the condition.


Podoconiosis, a type of elephantiasis (leg swelling) found in farming communities in the tropics, is triggered by an abnormal reaction to irritant mineral particles found in soils of volcanic origins amongst people who cannot afford shoes. Credit: Gail Davey

Podoconiosis, or 'podo', as it is often called, was added to the World Health Organization's list of neglected tropical diseases in 2011. It is a type of elephantiasis (leg swelling) found in farming communities in the tropics and is triggered by an abnormal reaction to irritant mineral particles found in soils of volcanic origins amongst people who cannot afford shoes.

Many years of walking, ploughing or playing barefoot on these soils appears to trigger inflammatory changes within the lymph system in the legs, which in time can lead to foot swelling and ultimately elephantiasis.

The disease often runs in families, implying that there is a hereditary component to the disease, but until now, no genetic variants had been identified which confer increased risk. The genetic variants discovered in this new study all fall within a region of the genome known as the HLA class II, which is important in controlling immune responses. Combined, the three variants increase the risk of developing podoconiosis by a factor of two to three.

Prof Melanie Newport from Brighton & Sussex Medical School, who led the study, says: "The region where we have found these susceptibility genes for podoconiosis plays an important role in controlling our immune system. It confirms what we had expected, that there is an immunological basis to the disease. Although this is still early days for identifying potential treatments, it suggests that drugs that target immune responses may be useful."

First author Dr Fasil Tekola Ayele from the Armauer Hansen Research Institute, Ethiopia, adds: "Genome wide association studies on African populations are still fairly novel. However, this study highlights the importance of such studies in helping us understand the origins of diseases that are particularly common on the continent." Dr Ayele is currently on a postdoctoral attachment at the National Human Genome Research Institute, USA.

Dr Abraham Aseffa, also from the Armauer Hansen Research Institute, says: "Our next step is to try to pinpoint exactly which molecules are involved in podoconiosis, and which specific genetic mutations affect the function of these molecules. This will shed a lot more light on potential therapeutic options."

Professor Newport and colleagues have recently launched Footwork, an international initiative to bring together public and private partners to prevent and treat podoconiosis Footwork aims to integrate podoconiosis control with that of other neglected tropical diseases wherever possible, and to partner with organizations working in foot-related conditions to advocate for shoes as cost-effective interventions to tackle such diseases.

"There are still many places round the world where people cannot afford a pair of shoes," says Dr Gail Davey, co-author on the study and Executive Director of Footwork. "For some people, this means cold, cut or bruised feet, but for others it can lead to podoconiosis, which can have a significant impact on their quality of life. We hope that shoes can become the 'new bed-nets': simple, cost-effective interventions that mean that in future there is no reason for anyone's life to be destroyed for the want of a shoe."

Commenting on the findings, Dr Jimmy Whitworth, Head of International Activities at the Wellcome Trust, adds: "Podoconiosis is finally getting the attention it deserves as a disease that blights the lives of millions of people. The success of this international collaboration is testament to the importance of providing opportunities for training and building capacity for African researchers to take a lead on important work such as this."

Craig Brierley | EurekAlert!
Further information:
http://www.wellcome.ac.uk

More articles from Studies and Analyses:

nachricht The personality factor: How to foster the sharing of research data
06.09.2017 | ZBW – Leibniz-Informationszentrum Wirtschaft

nachricht Europe’s Demographic Future. Where the Regions Are Heading after a Decade of Crises
10.08.2017 | Berlin-Institut für Bevölkerung und Entwicklung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

Im Focus: Fast, convenient & standardized: New lab innovation for automated tissue engineering & drug

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Comet or asteroid? Hubble discovers that a unique object is a binary

21.09.2017 | Physics and Astronomy

Cnidarians remotely control bacteria

21.09.2017 | Life Sciences

Monitoring the heart's mitochondria to predict cardiac arrest?

21.09.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>